Klein-Waardenburg syndrome; Waardenburg-Shah syndrome
Definition of Waardenburg syndrome
Waardenburg syndrome is a group of inherited conditions characterized by and partial albinism (pale skin, hair, and eye color).
Causes, incidence, and risk factors
Waardenburg syndrome is inherited as an autosomal dominant trait, meaning only one parent has to pass on the faulty gene for a child to be affected.
Signs and tests
Tests may include:
No specific treatment is available for Waardenburg syndrome. Attention must be paid to any hearing deficits, and hearing aids and appropriate schooling may be needed. Special diets and medicines to keep the bowel moving are prescribed to type IV patients who have constipation.
Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have additional problems, however, which can lead to complications.
Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 8/26/2009